ClinVar Miner

Submissions for variant NM_000047.2(ARSL):c.157A>G (p.Ile53Val) (rs61733256)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145027 SCV000192064 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145027 SCV000301624 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000145027 SCV000516926 benign not specified 2016-11-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000526439 SCV000639843 benign X-linked chondrodysplasia punctata 1 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282668 SCV001156838 benign none provided 2020-01-20 criteria provided, single submitter clinical testing

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